A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597850



Internal ID16385259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37839624..37840141hg38UCSC Ensembl
Innerchr5:37839726..37840243hg19UCSC Ensembl
Innerchr5:37875483..37876000hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38518
hg19518
hg18518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029096
Samples
Known GenesGDNF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597850
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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